Nucleotide News and Research

Myotonic dystrophy (DM) is the most common form of genetic muscular dystrophy that begins in adulthood. DM is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonic) and are not able to relax certain muscles after use.

A report in The Journal of Molecular Diagnostics, describes a new simple molecular test to detect chromosomal abnormalities -- biomarkers known as telomere fusions--in pancreatic tumor specimens and pancreatic cyst fluids.

Genetic susceptibility to bipolar disorder can increase the risk for suicide attempt, but only among those who also have experienced traumatic stress, reports a study published in the December 2017 issue of the Journal of the American Academy of Child and Adolescent Psychiatry.

Designing new therapeutic DNA aptamers with diverse side chains can improve their ability to interact with targets, and a new study describes characteristics of these side chains that may determine how long the aptamers remain in the bloodstream.

New findings will help to identify the genetic causes of brain disorders: researchers at the Universities of Basel, Bonn and Cologne have presented a systematic catalog of specific variable locations in the genome that influence gene activity in the human hippocampus, as they report in the journal Nature Communications.

The destructive force of UV radiation on DNA molecules is only fully visible, when repair mechanisms fail: patients with the rare genetic disease Xeroderma pigmentosum - also known as 'Moon children' - develop inflammations upon exposure to only small amounts of sunlight, rough-surfaced growths and eventually skin cancer occurs often in early age.

Researchers at Kanazawa University and the University of Tokyo report in Nature Communications the visualization of the dynamics of ‘molecular scissors’ — the main mechanism of the CRISPR-Cas9 genetic-engineering technique.

Although estimates vary, scientists believe that 50 to 64 percent of the risk of alcohol use disorders (AUDs) is inherited. One way to identify this risk is through a person's subjective response to alcohol.

Human cells divide and create new cells throughout life. In this process, a steady – even rhythmic – supply of DNA building blocks is needed to create new DNA. Now researchers from the University of Copenhagen are the first to show exactly how human cells regulate this process so it does not fail and cause illness.

Researchers from RUDN University and Institute of Biomedical Chemistry of the Russian Academy of Sciences have identified an alternative mechanism for the effective antitumor drug -- an enzyme called L-asparaginase.

Both environmental and genetic risk factors contribute to development of lung cancer. Tobacco smoking is the most well-known environmental risk factor associated with lung cancer. A Dartmouth research team led by Yafang Li, PhD, has conducted a study to display that gene-smoking interactions play important roles in the etiology of lung cancer.

Triglycerides, a type of fat in the blood, are important for good health. But having high triglycerides might increase a person's risk of heart disease, and may be a sign of metabolic syndrome--a combination of high blood pressure, high blood sugar, and too much fat accumulation at the waist.

New research shows that a new class of antiviral drugs works by causing the virus' replication machinery to pause and backtrack, preventing the virus from efficiently replicating. This discovery, made possible by a high-throughput experimental technique called "magnetic tweezers," could speed the development and approval of related antiviral drugs.

Using data from blood and brain tissue, a team led by researchers at Johns Hopkins Bloomberg School of Public Health found that they could gain insights into mechanisms that might help explain autism by analyzing the interplay between genes and chemical tags that control whether genes are used to make a protein, called epigenetic marks.

What role do genes play in egg, milk, and nut allergies? A study published in Nature Communications, led by the Max Delbrück Center for Molecular Medicine and Charité - Universitätsmedizin Berlin, has found five genetic risk loci that point to the importance of skin and mucous membrane barriers and the immune system in the development of food allergies.

Human populations vary vastly in skin tones. European populations have been studied and some of the genes that determine skin color have been found. A latest study in a varied African population has found the specific and new genetic variants that could determine skin color and skin pigmentation. The study report is published in the journal Science.

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, today announced that two important studies will be featured in podium presentations at the 36th annual conference of the National Society of Genetic Counselors in Columbus, OH.

Samuel Lesko has more than 20 years experiences in running AFM over variety of applications.
After obtaining a PhD at Burgundy university on colloidal force measurement in cement, he started his career at Veeco Instruments as French Applications Scientists before to continue on supporting Bio Applications AFM European wide. He is since 2007 Applications manager for Europe, Middle East and Africa. Recently, his position expanded to Latin America.

There's a continued drive towards making in vitro assays ever more translational towards in vivo models and ultimately the clinic. This ties in with the resurgence of phenotypic screening and is a response to the perceived poor translation of the traditional simple cell-based assays, often developed to study just single protein targets.

Paul Morris is the Director of Professional Advancement for Specsavers Opticians in the UK and Ireland. The role involves furthering clinical scope, professional services, standards, training and forming future strategy for the group. He previously held the role of Director of Optometry Advancement.

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